Möller C - Search Results

1

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ; University of Washington Center for Mendelian Genomics; van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L. Tracewska-Siemiątkowska A, et al. Among authors: moller c. Genes (Basel). 2017 Dec 11;8(12):381. doi: 10.3390/genes8120381. Genes (Basel). 2017. PMID: 29232904 Free PMC article.

2

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.

Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP. Liu YP, et al. Among authors: moller c. Ophthalmic Genet. 2017 Mar-Apr;38(2):127-132. doi: 10.3109/13816810.2016.1151898. Epub 2016 Mar 30. Ophthalmic Genet. 2017. PMID: 27029556 Free PMC article.

3

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A. Gorcenco S, et al. Among authors: moller c. Parkinsonism Relat Disord. 2019 Apr;61:245-247. doi: 10.1016/j.parkreldis.2018.10.017. Epub 2018 Oct 15. Parkinsonism Relat Disord. 2019. PMID: 30343981 No abstract available.

4

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.

Tingaud-Sequeira A, Raldúa D, Lavie J, Mathieu G, Bordier M, Knoll-Gellida A, Rambeau P, Coupry I, André M, Malm E, Möller C, Andreasson S, Rendtorff ND, Tranebjærg L, Koenig M, Lacombe D, Goizet C, Babin PJ. Tingaud-Sequeira A, et al. Among authors: moller c. Neurobiol Dis. 2017 Feb;98:36-51. doi: 10.1016/j.nbd.2016.11.008. Epub 2016 Nov 23. Neurobiol Dis. 2017. PMID: 27890673

5

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome.

Malm E, Ponjavic V, Nishina PM, Naggert JK, Hinman EG, Andréasson S, Marshall JD, Möller C. Malm E, et al. Among authors: moller c. Arch Ophthalmol. 2008 Jan;126(1):51-7. doi: 10.1001/archophthalmol.2007.28. Arch Ophthalmol. 2008. PMID: 18195218

6

Alteration of rod and cone function in children with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Stone ES, Andréasson S. Malm E, et al. Among authors: moller c. Eur J Ophthalmol. 2011 Jan-Feb;21(1):30-8. doi: 10.5301/ejo.2010.5433. Eur J Ophthalmol. 2011. PMID: 20544672

7

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O. Dreyer B, et al. Among authors: moller c. Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524. Hum Mutat. 2008. PMID: 18273898

8

Phenotypes in defined genotypes including siblings with Usher syndrome.

Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S. Malm E, et al. Among authors: moller c. Ophthalmic Genet. 2011 Jun;32(2):65-74. doi: 10.3109/13816810.2010.536064. Epub 2010 Dec 21. Ophthalmic Genet. 2011. PMID: 21174530

9

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ. Hartel BP, et al. Among authors: moller c. Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16. Hear Res. 2016. PMID: 27318125

10

Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.

Sadeghi M, Cohn ES, Kimberling WJ, Tranebjaerg L, Möller C. Sadeghi M, et al. Among authors: moller c. Int J Audiol. 2005 May;44(5):307-16. doi: 10.1080/14992020500060610. Int J Audiol. 2005. PMID: 16028794

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